Sjms treatment includes the early control of lung infections as well as. Most cases are asymptomatic, and subsequent diagnosis may not occur until adulthood. We report a case of this rare disease treated surgically and discuss pathological findings. Fregonese l, girosi d, battistini e, fregonese b, risso fm, bava gl, et al. A person diagnosed with swyer syndrome is a female with altered genetic information containing male sex chromosomes. A person with this disorder is typically raised as a female due to the normal appearance of female genitalia and the presence of a uterus and fallopian tubes. We report a case of semiinvasive pulmonary aspergillosis in a 38yearold portuguese, caucasian man who is immunocompetent, with a preexisting swyer james mcleod syndrome, a. This site includes a wide variety of resources of interest to radiologic science professionals. In the chest radiography obtained before her ear surgery, volume decrease in the right hemithorax, elevation of the right diaphragm, and increase of ventilation in the right lung were detected. Swyers syndrome definition of swyers syndrome by medical. The following is the supplementary data related to this article. Swyer syndrome is characterized by a 46 xy karyotype pic. Swyerjames syndrome genetic and rare diseases information. Swyerjamesmacleod syndrome as a rare cause of unilateral h.
Swyer james macleod syndrome sjms, which was first described in 1953 by swyer and james, and further detailed by macleod, is a rare acquired condition secondary to viral bronchiolitis and. Anesthetic implications for patients with swyerjames. Notice the left hemithorax is more lucent than the right. Swyer syndrome is a condition that affects sexual development. This case involves discussions regarding congenital lung abnormalities manifesting in young adults, swyer james syndrome, bronchiolitis, emphysema, and the role for surgical pneumonectomy, lung volume reduction surgery and nonsurgical endobronchial balloon therapy of unilateral emphysema. Here we report the case of a 53yearold caucasian woman with swyerjamesmacleod syndrome found in the. A case of swyerjamesmacleod syndrome associated with. Clinical, physiologic, and roentgenographic changes after pneumonectomy in a boy with macleod swyer james syndrome and bronchiectasis. The diagnosis is usually made in childhood but sometimes occurs in adulthood. Clinical, physiologic, and roentgenographic changes after pneumonectomy in a boy with macleodswyerjames syndrome and bronchiectasis. Total score ranges from 0 to 3,600 being 0 the worst and 3,600 the best. Swyerjames syndrome sjs, also called macleod syndrome is a rare lung disorder found by english chest physician william mathiseon macleod, and simultaneously by physician paul robert swyer and radiologist george james in the 1950s in canada. The case will include radiography, pulmonary function tests, a cardiopulmonary exercise.
This case illustrates the typical features of swyerjames syndrome. Swyer james syndrome is a rare condition characterized by a unilateral hyperlucency in the lung secondary to infectious bronchiolitis acquired in childhood, leading to arrested lung growth that results in regional postobstructive hyperinflation and pulmonary vessel hypoplasia. Another patient with swyer james syndrome, this time of the left lung. Swyer syndrome is very specific rare health condition which was first described by dr. Swyerjames syndrome sjs, also known as swyer james macleod syndrome and bret syndrome, is a rare lung condition that manifests as unilateral hemithorax lucency as a result of postinfectious obliterative bronchiolitis. Swyerjamesmacleod syndrome sjms is a rare etiology of a unilateral. Statistics of swyer syndrome 46 xy complete gonadal dysgenesis 1 people with swyer syndrome 46 xy complete gonadal dysgenesis have taken the sf36 survey. Mean of swyer syndrome 46 xy complete gonadal dysgenesis is 1200 points 33 %. In sjs, the involved lung or portion of the lung does not. Swyerjamesmacleod syndrome is a radiological entity characterised by hyperlucency of one or more lobes or of the entire lung associated with decreased.
Unilateral small lung, albeit with signs of air trapping. Pdf the aim of this study is to describe the clinical and imaging features of swyerjamesmacleod syndrome sjms in 9 adults. This case highlights the possibility of pulmonary hypertension to be one of the cardinal manifestations of this syndrome, and outlines the significance of application of computedtomography in confirming the diagnosis of sjms and in eliminating other. Swyerjamesmacleod syndrome or unilateral hyperlucent lung. Chronic lung disease, genetic abnormalities, and systemic. Your exploration of the radiological resouces available on the internet can be as structured or as unstructured as you want it to be. The diagnosis is based on a thorough history, physical exam, and imaging studies that.
Swyer james mcleod syndrome sjms, centrilobular emphysema, allergic bronchopulmonary aspergillosis, congenital lobar over inflation, bronchial atresia and congenital interruption of pulmonary artery. Swyerjames syndrome definition of swyerjames syndrome. Mutations in the sry gene have been identified in 15% to 20% of individuals with swyer syndrome. Complication of postinfectious bronchiolitis obliterans. Mar 05, 2019 swyer james syndrome sjs, also called swyer james macleod syndrome sjms, is a rare manifestation of postinfectious bronchiolitis associated with adenovirus types 3, 7, and 21. May 08, 2020 swyer syndrome is a rare genetic disorder that causes the affected person to have the physical appearance of a female and the chromosomal makeup of a male.
Treatment of sjms is usually conservative and involves chest physiotherapy. A case of swyerjamesmacleod syndrome associated with middle. Welcome, so glad you found this page dedicated to the support of those with swyer s syndrome. The following year, macleod reported nine patients with unilateral pulmonary hyperlucency 2. Gimelli g, gimelli s, dimasi n, bocciardi r, di battista e, pramparo t, zuffardi o. Swyerjames syndrome american journal of respiratory and. Vats bullectomy and apical pleurectomy for spontaneous. A 58yearold female patient presented to the hospital with hearing loss. Files are available under licenses specified on their description page. This rare case was complicated by a rare postoperative complication.
Swyer syndrome represents one phenotypic result of a failure of the gonads to develop properly, and hence is part of a class of conditions termed gonadal dysgenesis. Swyer syndrome genetic and rare diseases information center. Semiinvasive aspergillosis in an immunocompetent patient. The disorder is the manifestation of postinfectious obliterative bronchiolitis of the lung or a part of the lung 2. Swyer james macleod syndrome presenting with pulmonary hypertension article pdf available in iranian cardiovascular research journal 43. Pdf clinical spectrum of swyerjamesmacleod syndrome in adults. Swyerjames syndrome is a rare condition in which the lung or portion of the lung does not grow normally and is slightly smaller than the opposite lung, usually following bronchiolitis in childhood. Pdf swyerjamesmacleod syndrome sjms is a rare etiology of a. Jan 16, 2017 swyer james macleod syndrome sjms, first reported in 1953 and 1954, is a rare cause of a unilateral hyperlucent hemithorax. Swyer james syndrome is a complication of postinfectious bronchiolitis obliterans that causes inflammation and fibrosis of the bronchial walls.
This page was last edited on 8 october 2019, at 09. Computed tomography provides useful additional information. Swyerjames syndrome is a rare pulmonary disease characterized by the presence of a unilateral hyperlucent lung 1. This is a pdf file of an unedited manuscript that has been accepted for. Swyer james or macleod syndrome is a postinfectious constrictive bronchiolitis that is usually the sequelae of severe childhood pneumonia. Swyer syndrome in a woman with pure 46, xy gonadal. It is typically diagnosed after a chest xray or ct scan which shows unilateral pulmonary hyperlucency one lung appearing less dense and diminished pulmonary arteries.
Syndrome is characterized by a 46 xy karyotype male karyotype. Swyer james macleod syndrome or unilateral hyperlucent lung syndrome is a rare entity associated with postinfectious bronchiolitis obliterans occurring in childhood. The case will include radiography, pulmonary function tests, a cardiopulmonary. Welcome, so glad you found this page dedicated to the support of those with swyers syndrome. May, 2014 because patients with swyer james syndrome have almost always been treated conservatively, few reports exist of pathological findings of the lung in this syndrome. The changes are caused by bronchiolitis obliterans in infancy or childhood. Swyerjamesmacleod syndrome with unilateral pulmonary fibrosis. Unilateral bronchiolitis obliterans caused by bronchiolitis in infancy is termed swyerjames syndrome. Pdf a unilateral hyperlucent lung swyerjames syndrome.
Mycoplasma pneumoniae, parainfluenza virus types, influenza virus types a and b, respiratory syncytial virus, measles. Sjs is a rare disease characterized by a hyperlucent lung or lobe, usually of normal or small size, associated with air trapping. Swyer syndrome affects girls who have an xy chromosomal makeup, no ovaries, but functional female organs including the uterus, fallopian tubes and vagina. Identification and molecular modelling of a novel familial mutation in the sry gene implicated. One estimate placed the incidence at 1 in 80,000 births. Swyerjamesmacleod syndrome sjms, which was first described in 1953 by swyer and james, and further detailed by macleod, is a rare acquired condition secondary to viral bronchiolitis and. Adenovirus types 3, 7, and 21 have been implicated most commonly, but other infectious etiologies include. After thorough examination and investigations including chest xray and cect chest, a diagnosis of. Swyerjames syndrome is a complication of postinfectious bronchiolitis obliterans that causes inflammation and fibrosis of the bronchial walls. Regarding the etiology, swyerjames syndrome is thought to be acquired following infections that occurred during infancy or childhood 3. It is typically diagnosed after a chest xray or ct scan which shows unilateral pulmonary hyperlucency one lung appearing less dense and. Swyer james syndrome sjs was first described by swyer and james in a 6yearold child in 1953 1. Here we report the case of a 53yearold caucasian woman with swyer james macleod syndrome found in the.
Swyerjames macleod syndrome or unilateral hyperlucent lung syndrome is a rare entity associated with postinfectious bronchiolitis obliterans occurring in childhood. Swyer syndrome nord national organization for rare. A 36yearold woman repeatedly contracted bronchitis and pneumothorax since adolescence, until april 26, 1997, when she reported chest pain. Swyer syndrome is an example of a condition in which an externally unambiguous female body carries dysgenetic, atypical, or abnormal gonads. Pdf version chronic obstructive pulmonary diseases. Swyer james syndrome sjs, also known as swyer james macleod syndrome and bret syndrome, is a rare lung condition that manifests as unilateral hemithorax lucency as a result of postinfectious obliterative bronchiolitis. We present the case of a 7yearold female with swyer james syndrome, which was initially diagnosed and treated as asthma. Swyerjamesmacleod syndrome is a rare form of postinfectious. Surgically treated swyerjames syndrome springerlink. May 26, 2010 swyer james macleod syndrome is a rare condition characterized by hyperlucency of one lung, lobe or part of a lobe due to decreased vascularity and air trapping. The most common gonadal tumour in women with swyer syndrome is a gonadoblastoma, a benign noncancerous tumour that occurs exclusively in people with defective development of the gonads. Another estimate placed the incidence of swyer syndrome complete gonadal dysgenesis and partial.
Swyer syndrome genetic and rare diseases information. Approximately 30% of women with swyer syndrome develop a tumour that arises from the cells that forms the testes or ovaries gonadal tumour. Apr 23, 2020 swyer syndrome is a genetic condition affecting sexual organ development, classified as a disorder of sex development dsd. A 79 year male patient presented to us with a history of fever, cough with expectoration, breathlessness on exertion increased since 10 days. Another patient with swyerjames syndrome, this time of the left lung. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for swyerjames syndrome. This case illustrates the typical features of swyer james syndrome. It is a relatively uncommon entity, occurring in 3.
This syndrome is characterized by unilateral hyperlucency on chest radiography. Swyerjamesmacleod syndrome or unilateral hyperlucent lung syndrome is a rare entity associated with postinfectious bronchiolitis obliterans occurring in childhood. Swyerjames syndrome definition of swyerjames syndrome by. Swyerjamesmcleod syndrome sjms, centrilobular emphysema, allergic bronchopulmonary aspergillosis, congenital lobar over inflation, bronchial atresia and congenital interruption of pulmonary artery. Swyer syndrome nord national organization for rare disorders. All structured data from the file and property namespaces is available under the creative commons cc0 license. Swyerjames syndrome is a manifestation of postinfectious obliterative bronchiolitis. Swyer syndrome in a woman with pure 46, xy gonadal dysgenesis. The oligaemia of the left lung is shown as reduced fdg uptake figure 3 on pet ct, which was done to investigate a different pathology. Pdf swyerjamesmacleod syndrome is a radiological entity characterised by hyperlucency of one or more lobes or of the entire lung associated with.
Swyer syndrome 46 xy complete gonadal dysgenesis diseasemaps. Swyerjamesmacleod syndrome presenting with pulmonary hypertension. Sep 19, 2016 swyer james syndrome is a rare syndrome that occurs as a result of repeated bronchiolitis and pneumonitis in childhood. It may be caused by the destruction of peripheral capillaries in the affected lung usually as a result of recurring lung infections during childhood.
The male gonads undergo rapid and early degeneration, which appear in the adult as streak gonads consisting mainly of fibrous tissue and ovarian stroma. Sexual development is usually determined by an individuals chromosomes. A rare acquired lung anomaly where one lung is more translucent than the other. The swyerjames syndrome is a unique entity which may be managed by both adult and pediatric pulmonologists and surgeons. You never know what gem you might uncover when you follow the next link. Rare successful pregnancy in a patient with swyer syndrome. Swyerjamesmacleod syndrome sjms is a rare lung disorder. The swyer james syndrome is a unique entity which may be managed by both adult and pediatric pulmonologists and surgeons. This case involves discussions regarding congenital lung abnormalities manifesting in young adults, swyerjames syndrome, bronchiolitis, emphysema, and the role for surgical pneumonectomy, lung volume reduction surgery and nonsurgical endobronchial balloon therapy of unilateral emphysema. It is typical disorder of sex development dsd with population incidence 1. Swyerjames syndrome sjs, also called macleod syndrome is a rare lung disorder found by english chest physician william mathiseon macleod, and simultaneously by physician paul robert swyer and radiologist george james in the 1950s in canada swyerjames syndrome is a manifestation of postinfectious obliterative bronchiolitis. In swyer syndrome, people with one x chromosome and one y chromosome, normally present in males, are born with female external genitalia and underdeveloped gonads ovaries or testes known as streak gonads.
Parametric response map is a voxelbased imageanalysis technique. Here we report the case of a 53yearold caucasian woman with swyerjames macleod syndrome found in the. Swyer james macleod syndrome sjms is a rare constrictive bronchiolitis with airflow obstruction and a decreased number and diameter of ipsilateral peripheral pulmonary vessels. Swyerjamesmacleod syndrome presentating as pneumothorax. Swyerjames macleod syndrome images, diagnosis, treatment. Swyerjames macleod syndrome sjms is a rare condition characterized by unilateral hyperlucency of part of whole of lung which. The postpneumonectomy syndrome was treated by thoracoscopic placement of salinefilled implants. At the thorax ctct angiography, hypoplasia of the main pulmonary artery and its branches and arteriovenous malformation. Swyer james syndrome, also known as unilateral hyperlucent lung syndrome, refers to the manifestation of postinfectious obliterative bronchiolitis. Swyerjames syndrome sjs is a relatively uncommon type of postinfectious obliterative bronchiolitis as a result of respiratory tract infection rti in early childhood. Sjms is a manifestation of postinfectious obliterative bronchiolitis.
On closer examination, note how many fewer pulmonary blood vessels there are on the left than the right. Oct 21, 2011 swyer james syndrome is a rare condition in which the lung or portion of the lung does not grow normally and is slightly smaller than the opposite lung, usually following bronchiolitis in childhood. Most patients do not develop symptoms while the remaining exhibit a productive cough, hemoptysis, exertional dyspnea, and decreased exercise tolerance. Treatment is usually individualized ranging from conservative. It is characterized by hypoplasia andor agenesis of the pulmonary arteries resulting in pulmonary parenchyma hypoperfusion.
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